MCID: EPL230
MIFTS: 26

Epilepsy with Myoclonic-Atonic Seizures

Categories: Rare diseases

Aliases & Classifications for Epilepsy with Myoclonic-Atonic Seizures

MalaCards integrated aliases for Epilepsy with Myoclonic-Atonic Seizures:

Name: Epilepsy with Myoclonic-Atonic Seizures 53
Myoclonic Astatic Epilepsy 53 55
Epilepsy with Myoclonic-Astatic Seizures 53
Epilepsy with Myoclono-Astatic Crisis 53
Myoclonic-Astatic Epilepsy 37
Doose Syndrome 53

Classifications:



External Ids:

KEGG 37 H01823

Summaries for Epilepsy with Myoclonic-Atonic Seizures

NIH Rare Diseases : 53 Epilepsy with myoclonic-atonic seizures is a rare epilepsy syndrome of early childhood. It is characterized by seizures of many different types, most often myoclonic-atonic, astatic, or generalized tonic-clonic seizures. Seizures can be followed by drop attacks, which can lead to falls and injuries. Absence seizures may occur. People with the condition may experience several seizures each day. The epilepsy may result in a delay or regression of skills.  Autistic features and ataxic (poorly controlled) movements have been reported in some cases. Treatment may include valproic acid alone or with other antiepileptic drugs. Ketogenic (high fat, low carb) diet has been successful in some. Long term outlook ranges from persistent seizures that do not respond to treatment and intellectual disability, to complete seizure remission after several years and normal outcome. Changes in the SCN1A, SCN1B, GABRG2, CHD2, and SLC6A1 genes can cause or contribute to epilepsy with myoclonic-atonic seizures. However, in many cases the cause remains unknown. Epilepsy with myoclonic-atonic seizures can be inherited from an affected parent or occur for the first time in a family as a sporadic disease.

MalaCards based summary : Epilepsy with Myoclonic-Atonic Seizures, also known as myoclonic astatic epilepsy, is related to myoclonic-astastic epilepsy and epilepsy. An important gene associated with Epilepsy with Myoclonic-Atonic Seizures is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). The drug Dronabinol has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization and Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization

Wikipedia : 76 Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, is a... more...

Related Diseases for Epilepsy with Myoclonic-Atonic Seizures

Diseases related to Epilepsy with Myoclonic-Atonic Seizures via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 myoclonic-astastic epilepsy 32.0 CHD2 SLC6A1
2 epilepsy 30.6 CHD2 SCN1A SLC6A1
3 epileptic encephalopathy, early infantile, 6 29.9 CHD2 SCN1A
4 lennox-gastaut syndrome 29.7 CHD2 SCN1A
5 seizure disorder 10.4
6 myoclonus 10.4
7 sturge-weber syndrome 10.2
8 panencephalitis, subacute sclerosing 10.2
9 epilepsy, idiopathic generalized 10.2
10 nicolaides-baraitser syndrome 10.2
11 diabetes mellitus 10.2
12 weber syndrome 10.2
13 status epilepticus 10.0
14 benign epilepsy with centrotemporal spikes 9.6 CHD2 SLC6A1

Graphical network of the top 20 diseases related to Epilepsy with Myoclonic-Atonic Seizures:



Diseases related to Epilepsy with Myoclonic-Atonic Seizures

Symptoms & Phenotypes for Epilepsy with Myoclonic-Atonic Seizures

GenomeRNAi Phenotypes related to Epilepsy with Myoclonic-Atonic Seizures according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.56 SCN1A SLC6A1
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.56 SCN1A SLC6A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.5 CHD2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.5 CHD2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.5 CHD2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.5 CHD2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.5 CHD2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 SCN1A
9 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.5 SCN1A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-186 9.5 SCN1A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.5 CHD2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 SCN1A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.5 SCN1A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 CHD2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.5 CHD2 SCN1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.5 SCN1A

Drugs & Therapeutics for Epilepsy with Myoclonic-Atonic Seizures

Drugs for Epilepsy with Myoclonic-Atonic Seizures (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20

Search NIH Clinical Center for Epilepsy with Myoclonic-Atonic Seizures

Genetic Tests for Epilepsy with Myoclonic-Atonic Seizures

Anatomical Context for Epilepsy with Myoclonic-Atonic Seizures

MalaCards organs/tissues related to Epilepsy with Myoclonic-Atonic Seizures:

41
Eye

Publications for Epilepsy with Myoclonic-Atonic Seizures

Articles related to Epilepsy with Myoclonic-Atonic Seizures:

(show top 50) (show all 58)
# Title Authors Year
1
Diagnosis switching and outcomes in a cohort of patients with potential epilepsy with myoclonic-atonic seizures. ( 30286391 )
2018
2
How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey. ( 29729532 )
2018
3
A case of fulminant subacute sclerosing panencephalitis presenting with acute myoclonic-astatic epilepsy. ( 28617265 )
2017
4
New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. ( 27665729 )
2017
5
Epilepsy with myoclonic atonic seizures and chronic cerebellar symptoms associated with antibodies against glutamate receptors N2B and D2 in serum and cerebrospinal fluid. ( 28246062 )
2017
6
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. ( 27600546 )
2016
7
Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. ( 26818399 )
2016
8
Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures. ( 29308451 )
2016
9
Epileptic spasms in epilepsy with myoclonic-atonic seizures (Doose syndrome). ( 27506632 )
2016
10
Epilepsy with myoclonic-atonic seizures (Doose syndrome): When video-EEG polygraphy holds the key to syndrome diagnosis. ( 26958468 )
2016
11
Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy. ( 25884503 )
2015
12
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. ( 25865495 )
2015
13
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION. ( 26625664 )
2015
14
The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. ( 26537434 )
2015
15
CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. ( 26262932 )
2015
16
High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience. ( 25455059 )
2015
17
Study of epileptic drop attacks in symptomatic epilepsy of early childhood - Differences from those in myoclonic-astatic epilepsy. ( 24731746 )
2014
18
EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). ( 24696509 )
2014
19
The ketogenic diet for the treatment of myoclonic astatic epilepsy in a child with type 1 diabetes mellitus. ( 25022865 )
2014
20
Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. ( 24055341 )
2014
21
Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. ( 23643463 )
2013
22
Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy? ( 23159713 )
2013
23
Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients. ( 23583052 )
2013
24
First long-term experience with the orphan drug rufinamide in children with myoclonic-astatic epilepsy (Doose syndrome). ( 22266062 )
2012
25
A patient with myoclonic epilepsy in infancy followed by myoclonic astatic epilepsy. ( 22342656 )
2012
26
Myoclonic astatic epilepsy and the use of the ketogenic diet. ( 21632215 )
2012
27
Dissecting the genetic basis of myoclonic-astatic epilepsy. ( 22780699 )
2012
28
Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. ( 21873030 )
2011
29
Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. ( 21555602 )
2011
30
Myoclonic astatic epilepsy and the role of the ketogenic diet. ( 21710920 )
2011
31
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. ( 20722665 )
2010
32
[A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. ( 18210862 )
2008
33
Myoclonic-astatic epilepsy in a child with Sturge-Weber syndrome. ( 17275664 )
2007
34
Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. ( 17651420 )
2007
35
Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). ( 17105463 )
2006
36
Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. ( 16987744 )
2006
37
The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. ( 17105462 )
2006
38
Ketogenic diet in patients with myoclonic-astatic epilepsy. ( 16793577 )
2006
39
Myoclonic-astatic epilepsy of early childhood--definition, course, nosography, and genetics. ( 15508920 )
2005
40
Idiopathic myoclonic-astatic epilepsy of early childhood--nosology based on electrophysiologic and long-term follow-up study of patients. ( 15508921 )
2005
41
SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic- clonic seizures. ( 15944908 )
2005
42
A magnetoencephalographic study of astatic seizure in myoclonic astatic epilepsy. ( 15351021 )
2004
43
Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. ( 14597780 )
2003
44
Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. ( 14642997 )
2003
45
Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). ( 14734934 )
2003
46
Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. ( 12200741 )
2002
47
Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. ( 12060020 )
2002
48
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). ( 11701287 )
2001
49
Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome. ( 11701290 )
2001
50
Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. ( 10463847 )
1999

Variations for Epilepsy with Myoclonic-Atonic Seizures

Copy number variations for Epilepsy with Myoclonic-Atonic Seizures from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 33171 1 43163632 43197434 Amplification SLC2A1 Myoclonic Astatic Epilepsy

Expression for Epilepsy with Myoclonic-Atonic Seizures

Search GEO for disease gene expression data for Epilepsy with Myoclonic-Atonic Seizures.

Pathways for Epilepsy with Myoclonic-Atonic Seizures

GO Terms for Epilepsy with Myoclonic-Atonic Seizures

Cellular components related to Epilepsy with Myoclonic-Atonic Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.62 SCN1A SLC6A1

Biological processes related to Epilepsy with Myoclonic-Atonic Seizures according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 8.62 SCN1A SLC6A1

Sources for Epilepsy with Myoclonic-Atonic Seizures

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74 UMLS via Orphanet
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